The UMD-APC mutations database
Record ID: 2901

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS8-120G>C (c.934-120G>C)

wt codonwt aamutant codonmutant aamutational eventmutation type
GTGValspl-120G>C

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Impact on splicing
Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Cryptic Acceptor?
TTTTTTTTGGCGGGG
57.9 _
TTTTTTTTGCCGGGG
68.1 _ *
15.1 %

Patient and sample data


Sample IDPatient status
19_24119---24119-001Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data